ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.3113T>C (p.Val1038Ala) (rs1584047508)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000891 SCV001157973 uncertain significance Long QT syndrome 11 2018-11-11 criteria provided, single submitter clinical testing The AKAP9 c.3113T>C; p.Val1038Ala variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 1038 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Val1038Ala variant is uncertain at this time.

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